Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus
Journal
Taiwanese Journal of Obstetrics and Gynecology
Journal Volume
49
Journal Issue
1
Pages
81-86
Date Issued
2010
Author(s)
MING CHEN
Abstract
Objective: To present the prenatal sonographic findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with monosomy 17p (17p13.2 → pter) in a fetus. Case Report: A 25-year-old, gravida 3, para 1, woman was referred to Mackay Memorial Hospital at 36 weeks' gestation because of ventriculomegaly, intrauterine growth restriction, and congenital heart defects detected by ultrasound. The pregnancy was uneventful until 32 weeks of gestation when ventriculomegaly was first noted. Level II ultrasound at 36 weeks' gestation showed a fetal biometry equivalent to 32 weeks, tetralogy of Fallot, and bilateral ventriculomegaly. At 38 weeks' gestation, a 2,308-g female baby was delivered with facial dysmorphism. A presumptive diagnosis of DiGeorge syndrome was made. However, no del22q11 could be detected by rapid fluorescence in situ hybridization analysis. Cytogenetic analysis of the cord blood revealed a 46,XX,del(17)(p13.2) karyotype. Brain ultrasound showed paucity of gyral and sulcal development. Computed tomography scans showed tetralogy of Fallot. Magnetic resonance imaging of the brain showed lissencephaly and colpocephaly. The final diagnosis was MDLS. Conclusion: Ventriculomegaly and intrauterine growth restriction are important prenatal ultrasound markers of MDLS. Prenatal diagnosis of conotruncal heart defects in association with ventriculomegaly and intrauterine growth restriction should include a detailed investigation of MDLS in addition to DiGeorge syndrome. ? 2010 Taiwan Association of Obstetric & Gynecology.
Subjects
congenital heart defects; intrauterine growth restriction; lissencephaly; Miller-Dieker syndrome; monosomy 17p; ventriculomegaly
SDGs
Other Subjects
adult; agyria; aorta valve regurgitation; article; brain ventricle dilatation; case report; chromosome analysis; chromosome deletion; congenital heart disease; developmental disorder; DiGeorge syndrome; echocardiography; Fallot tetralogy; female; fetus echography; fluorescence in situ hybridization; gestational age; growth retardation; haploidy; heart atrium septum defect; heart right ventricle outflow tract obstruction; heart ventricle septum defect; human; intrauterine growth retardation; karyotype 46,XX; microcephaly; micrognathia; Miller Dieker syndrome; monosomy; monosomy 17p; nose malformation; pachygyria; patent ductus arteriosus; pulmonary valve atresia; seizure; umbilical cord blood; wrinkle; Adult; Brain; Cerebral Ventricles; Chromosomes, Human, Pair 17; Classical Lissencephalies and Subcortical Band Heterotopias; Craniofacial Abnormalities; Female; Fetal Growth Retardation; Humans; Infant, Newborn; Magnetic Resonance Imaging; Monosomy; Pregnancy; Tetralogy of Fallot; Ultrasonography, Prenatal
Type
journal article